Canonical Allele Identifier: CA406012950

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928208C>G (hg19) ; chr19:g.41422303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422303C>G , CM000681.2:g.41422303C>G	GRCh38
NC_000019.9:g.41928208C>G , CM000681.1:g.41928208C>G	GRCh37
NC_000019.8:g.46620048C>G	NCBI36
NG_013004.1:g.29515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.786C>G MANE Select	ENSP00000269980.2:p.Phe262Leu
ENST00000269980.6:c.786C>G	ENSP00000269980.2:p.Phe262Leu
ENST00000457836.6:c.720C>G	ENSP00000416000.2:p.Phe240Leu
ENST00000535632.5:n.415C>G
ENST00000540732.3:c.888C>G	ENSP00000443246.1:p.Phe296Leu
ENST00000542943.5:c.699C>G	ENSP00000440345.1:p.Phe233Leu
ENST00000545787.1:n.414C>G
ENST00000595085.5:c.786C>G	ENSP00000471150.2:p.Phe262Leu
NM_000709.3:c.786C>G	NP_000700.1:p.Phe262Leu
NM_001164783.1:c.786C>G	NP_001158255.1:p.Phe262Leu
NM_000709.4:c.786C>G MANE Select	NP_000700.1:p.Phe262Leu
NM_001164783.2:c.786C>G	NP_001158255.1:p.Phe262Leu